Abdenur JE - Search Results

1

Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.

Wang RY, Monuki ES, Powers J, Schwartz PH, Watkins PA, Shi Y, Moser A, Shrier DA, Waterham HR, Nugent DJ, Abdenur JE. Wang RY, et al. Among authors: abdenur je. J Inherit Metab Dis. 2014 Sep;37(5):791-9. doi: 10.1007/s10545-014-9698-3. Epub 2014 Mar 12. J Inherit Metab Dis. 2014. PMID: 24619150 Free PMC article.

2

Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass.

Wang RY, Chang RC, Sowa ME, Chang AC, Abdenur JE. Wang RY, et al. Among authors: abdenur je. World J Pediatr. 2014 Feb;10(1):83-5. doi: 10.1007/s12519-014-0458-0. Epub 2014 Jan 25. World J Pediatr. 2014. PMID: 24464670

3

Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency.

Chapel-Crespo CC, Villalba R, Wang R, Boyer M, Chang R, Waterham HR, Abdenur JE. Chapel-Crespo CC, et al. Among authors: abdenur je. Mol Genet Metab Rep. 2020 Jun 5;24:100608. doi: 10.1016/j.ymgmr.2020.100608. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32528852 Free PMC article. No abstract available.

4

Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.

Wang RY, Cambray-Forker EJ, Ohanian K, Karlin DS, Covault KK, Schwartz PH, Abdenur JE. Wang RY, et al. Among authors: abdenur je. Mol Genet Metab. 2009 Dec;98(4):406-11. doi: 10.1016/j.ymgme.2009.07.015. Epub 2009 Aug 5. Mol Genet Metab. 2009. PMID: 19748810

5

Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency.

Williams TB, Daniels M, Puthenveetil G, Chang R, Wang RY, Abdenur JE. Williams TB, et al. Among authors: abdenur je. Mol Genet Metab. 2012 May;106(1):104-7. doi: 10.1016/j.ymgme.2012.01.018. Epub 2012 Jan 28. Mol Genet Metab. 2012. PMID: 22424738

6

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.

Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. Gallant NM, et al. Among authors: abdenur je. Mol Genet Metab. 2012 May;106(1):55-61. doi: 10.1016/j.ymgme.2012.02.007. Epub 2012 Feb 9. Mol Genet Metab. 2012. PMID: 22424739

7

A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene.

Nguyen KV, Leydiker K, Wang R, Abdenur J, Nyhan WL. Nguyen KV, et al. Nucleosides Nucleotides Nucleic Acids. 2017 May 4;36(5):317-327. doi: 10.1080/15257770.2016.1267361. Epub 2017 Jan 19. Nucleosides Nucleotides Nucleic Acids. 2017. PMID: 28102781

8

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.

Leydiker KB, Neidich JA, Lorey F, Barr EM, Puckett RL, Lobo RM, Abdenur JE. Leydiker KB, et al. Among authors: abdenur je. Mol Genet Metab. 2011 May;103(1):92-5. doi: 10.1016/j.ymgme.2011.01.011. Epub 2011 Jan 27. Mol Genet Metab. 2011. PMID: 21354840

9

Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.

Simon MT, Eftekharian SS, Stover AE, Osborne AF, Braffman BH, Chang RC, Wang RY, Steenari MR, Tang S, Hwu PW, Taft RJ, Benke PJ, Abdenur JE. Simon MT, et al. Among authors: abdenur je. Mol Genet Metab. 2019 Jan;126(1):53-63. doi: 10.1016/j.ymgme.2018.11.001. Epub 2018 Nov 8. Mol Genet Metab. 2019. PMID: 30473481 Free PMC article.

10

Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE. Puckett RL, et al. Among authors: abdenur je. Mol Genet Metab. 2012 Jan;105(1):126-31. doi: 10.1016/j.ymgme.2011.10.010. Epub 2011 Oct 25. Mol Genet Metab. 2012. PMID: 22115770

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